Linked Data
dbSNP Id:
rs1474261187
gnomAD v2:
21-46931627-GGT-G
gnomAD v3:
21-45511713-GGT-G
gnomAD v4:
21-45511713-GGT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45511716_45511717del , CM000683.2:g.45511716_45511717del | GRCh38 |
| NC_000021.8:g.46931630_46931631del , CM000683.1:g.46931630_46931631del | GRCh37 |
| NC_000021.7:g.45756058_45756059del | NCBI36 |
| NG_011903.1:g.111525_111526del | |
| NG_028278.2:g.56429_56430del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355480.10:c.4350-472_4350-471del (COL18A1) | ENSP00000347665.5:n.4350-472_4350-471del | |
| ENST00000651438.1:c.3810-472_3810-471del (COL18A1) MANE Select | ENSP00000498485.1:n.3810-472_3810-471del | |
| ENST00000342220.9:c.1854-472_1854-471del (COL18A1) | ENSP00000339118.5:n.1854-472_1854-471del | |
| ENST00000355480.9:c.4350-472_4350-471del (COL18A1) | ENSP00000347665.5:n.4350-472_4350-471del | |
| ENST00000359759.8:c.5055-472_5055-471del (COL18A1) | ENSP00000352798.4:n.5055-472_5055-471del | |
| ENST00000400337.6:c.3810-472_3810-471del (COL18A1) | ENSP00000383191.2:n.3810-472_3810-471del | |
| ENST00000417954.5:c.498-13103_498-13102del (SLC19A1) | ||
| ENST00000423214.1:c.764-472_764-471del (COL18A1) | ||
| ENST00000473212.1:n.2136-472_2136-471del (COL18A1) | ||
| ENST00000567670.5:c.1294-13103_1294-13102del (SLC19A1) | ENSP00000457278.1:n.1294-13103_1294-13102del | |
| NM_030582.3:c.4341-472_4341-471del (COL18A1) | NP_085059.2:n.4341-472_4341-471del | |
| NM_130444.2:c.5046-472_5046-471del (COL18A1) | NP_569711.2:n.5046-472_5046-471del | |
| NM_130445.3:c.3801-472_3801-471del (COL18A1) | NP_569712.2:n.3801-472_3801-471del | |
| XM_011529707.1:c.1585-8746_1585-8745del (SLC19A1) | XP_011528009.1:n.1585-8746_1585-8745del | |
| XM_017028445.2:c.1585-8746_1585-8745del (SLC19A1) | XP_016883934.1:n.1585-8746_1585-8745del | |
| NM_030582.4:c.4341-472_4341-471del (COL18A1) | NP_085059.2:n.4341-472_4341-471del | |
| NM_130444.3:c.5046-472_5046-471del (COL18A1) | NP_569711.2:n.5046-472_5046-471del | |
| NM_130445.4:c.3801-472_3801-471del (COL18A1) | NP_569712.2:n.3801-472_3801-471del | |
| NM_001379500.1:c.3810-472_3810-471del (COL18A1) MANE Select | NP_001366429.1:n.3810-472_3810-471del |